Molecular basis of d-bifunctional protein deficiency
| Autor: | Jerzy Adamski, Ronald J.A. Wanders, E. G. van Grunsven, Gabriele Möller |
|---|---|
| Přispěvatelé: | Other departments |
| Rok vydání: | 2001 |
| Předmět: |
Acatalasemia
17-Hydroxysteroid Dehydrogenases Biology Biochemistry Endocrinology Multienzyme Complexes Peroxisomal disorder medicine Animals Humans Point Mutation Frameshift Mutation Peroxisomal Multifunctional Protein-2 Enoyl-CoA Hydratase Molecular Biology Gene Hydro-Lyases chemistry.chemical_classification Genetics Zellweger syndrome D-bifunctional protein deficiency Polymorphism Genetic Infant Newborn 3-Hydroxyacyl CoA Dehydrogenases Peroxisome medicine.disease Phenotype Enzyme chemistry Gene Deletion |
| Zdroj: | Molecular and cellular endocrinology, 171(1-2), 61-70. Elsevier Ireland Ltd |
| ISSN: | 0303-7207 |
| DOI: | 10.1016/s0303-7207(00)00388-9 |
| Popis: | Peroxisomal disorders appear with a frequency of 1:5000 in newborns. They are caused either by peroxisomal assembly defects or by deficiencies of single peroxisomal enzymes. The phenotypes vary widely: affected humans may die very early in life within a few days to several months as a result of the impairment in essential peroxisomal functions as, for example, in Zellweger syndrome, or they may show only minor disabilities as is in acatalasemia. The deficiency of d -bifunctional protein, an enzyme involved in peroxisomal β-oxidation of certain fatty acids and the synthesis of bile acids, causes a very severe, Zellweger-like phenotype. A number of different mutations in the gene coding for the enzyme were found in humans causing the total or partial loss of its enzymatic function. This paper gives a review of cases and their molecular basis. |
| Databáze: | OpenAIRE |
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